Skip to main content

Advertisement

SpringerLink
Log in

Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines

  • Letter to the Editor
  • Published:
Child's Nervous System Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. NorthrupD A Krueger (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49: 243–54

  2. Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H (2013) Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging 34:2442.e11–7

    PubMed  Google Scholar 

  3. Chen Z, Ye W, Long Z, Ding D, Peng H, Hou X, Qiu R, Xia K, Tang B, Jiang H (2015) Targeted next-generation sequencing revealed novel mutations in Chinese ataxia telangiectasia patients: a precision medicine perspective. PLoS One 10:e0139738

    Article  Google Scholar 

  4. Ding D, Chen Z, Li K, Long Z, Ye W, Tang Z, Xia K, Qiu R, Tang B, Jiang H (2016) Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. Sci Rep 6:20423

    Article  CAS  Google Scholar 

  5. Mao X, Li K, Tang B, Luo Y, Ding D, Zhao Y, Wang C, Zhou X, Liu Z, Zhang Y, Wang P, Xu Q, Sun Q, Xia K, Yan X, Jiang H, Lu S, Guo J (2017) Novel mutations in ADSL for adenylosuccinate lyase deficiency identified by the combination of trio-WES and constantly updated guidelines. Sci Rep 7:1625

    Article  Google Scholar 

Download references

Funding

This work was supported by the National Key Research and Development Program of China (Nos. 2016YFC0905100 and 2016YFC0901504 to H Jiang; No. 2016YFC1306000 to B Tang), the National Natural Science Foundation of China (No. 81771231 and No. 81974176 to H Jiang; No. 81600995 to Y Shi; No. 81901169 to Z Chen; No.81901305 to C Wang), the Scientific Research Foundation of Health Commission of Hunan Province (No. B2019183 to H Jiang), Science and Technology Project Plan of the Xinjiang Uygur Autonomous Region (No. 2016E02060 to X Meng), the Hunan Innovation Group Project (No. 2020JJ1008 to H Jiang), the Key Research and Development Program of Hunan Province (No. 2018SK2092 to H Jiang), the Innovative Research and Development Program of Development and Reform Commission of Hunan Province to H Jiang, the Natural Science Foundation of Hunan Province (No. 2019JJ40363 to R Qiu), the Clinical and Rehabilitation Funds of the Peking University Weiming Biotech Group (No. xywm2015I10 to H Jiang), and the Youth Foundation of Xiangya Hospital (No. 2017Q03 to Z Chen, No. 2018Q05 to C Wang).

Author information

Authors and Affiliations

  1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China

    Lang He, Wei Ye, Zhao Chen & Hong Jiang

  2. Department of Encephalopathy, The Affiliated traditional Chinese Medical Hospital of Xinjiang Medical University, Xinjiang, China

    Xinling Meng & Hong Jiang

  3. National Clinical Research Center for Geriatric Diseases, Central South University, Changsha, Hunan, China

    Hong Jiang

  4. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China

    Hong Jiang

  5. Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China

    Hong Jiang

Authors
  1. Lang He
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Wei Ye
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Zhao Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Xinling Meng
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hong Jiang
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Xinling Meng or Hong Jiang.

Ethics declarations

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

He, L., Ye, W., Chen, Z. et al. Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines. Childs Nerv Syst 36, 1827–1830 (2020). https://doi.org/10.1007/s00381-020-04791-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-020-04791-4

Search

Navigation